K5E (p.Lys5Glu) variant of EPAS1 (Q99814)
K5E (p.Lys5Glu) in EPAS1 (Q99814) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
K5E (p.Lys5Glu) variant details
- p.Lys5Glu
- gnomAD 2-46297924-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.07
- CADD 26.10
- PolyPhen-2 0.88
- SIFT 0.19
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available